Congenital Anomalies, Volume 65, Issue 1, January/December 2025.Abstract Sjögren‐Larsson syndrome (SLS) is an autosomal recessive leukodystrophy characterized by ichthyosis, intellectual disability, and progressive spastic paralysis caused by biallelic pathogenic variants in the ALDH3A2 gene that encodes the fatty aldehyde dehydrogenase, fatty aldehyde dehydrogenase (FALDH); FALDH catalyzes several metabolic ...
Yu Yamaguchi +11 more
wiley +1 more source
Ichthyosis in Sjögren–Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion [PDF]
, 2010 Sjögren–Larsson syndrome is a genetic disease characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene coding for fatty aldehyde dehydrogenase, an enzyme necessary for oxidation of fatty aldehydes and fatty alcohols ...
Crumrine, Debra A. +5 more
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Ichthyosis associated with rickets in two Indian children
Indian Journal of Dermatology, 2013 We wish to report two cases of rickets due to vitamin D deficiency secondary to underlying ichthyotic skin disorder. The first case is of an 8-year-old male with history of multiple fluid-filled lesions over the body that would rupture to heal with ...
Dimple Kothari +3 more
doaj +1 more source
A keratin scaffold regulates epidermal barrier formation, mitochondrial lipid composition, and activity. [PDF]
, 2015 Keratin intermediate filaments (KIFs) protect the epidermis against mechanical force, support strong adhesion, help barrier formation, and regulate growth.
Adams +140 more
core +1 more source
Loss of ceramide synthase 3 causes lethal skin barrier disruption [PDF]
, 2017 The stratum corneum as the outermost epidermal layer protects against exsiccation and infection. Both the underlying cornified envelope (CE) and the intercellular lipid matrix contribute essentially to these two main protective barriers. Epidermis-unique
Bayerle, Aline +14 more
core
The roles of ABCA12 in keratinocyte differentiation and lipid barrier formation in the epidermis [PDF]
, 2011 ABCA12 is a member of the large superfamily of ATP-binding cassette (ABC) transporters, which bind and hydrolyze ATP to transport various molecules across limiting membranes or into vesicles.
Akiyama, Masashi
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Oral acitretin treatment in severe congenital ichthyosis of the neonate
The Turkish Journal of Pediatrics, 2002 Two newborn infants with ichthyosis, one with lamellar ichthyosis and one with nonbullous ichthyosis form erythroderma, who presented at birth with a collodion baby appearance, were treated with acitretin (1 mg/kg/day).
Z Nurhan Saraçoğlu +4 more
doaj
Oral manifestations of lamellar ichthyosis: A rare case report
Indian Journal of Paediatric Dermatology, 2016 The ichthyoses are a heterogeneous group of disorders with both inherited and acquired forms. Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders that present at birth with the generalized involvement of skin without ...
Keerthi K Nair, G S Kodhandram
doaj +1 more source
Lamellar icthyosis with bilateral cicatricial ectropion: Case report with review of the literature
Medical Journal of Dr. D.Y. Patil University, 2015 Lamellar ichthyosis (LI), is a rare genodermatoses, that appears at birth and continues throughout a person's life with an autosomal recessive mode of inheritance.
Sonia P Jain
doaj +1 more source
Progress in the use of adeno-associated viral vectors for gene therapy [PDF]
, 2004 The development of safe and efficient gene transfer vectors is crucial for the success of gene therapy trials. A viral vector system promising to meet these requirements is based on the apathogenic adeno-associated virus (AAV-2), a member of the ...
Braun-Falco, M., Buning, H., Hallek, M.
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